MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: Aplasia of optic nerve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021084
Disease: Aplasia of optic nerve
Aplasia of optic nerve 		0.010 AlteredExpression phenotype BEFREE Indeed, overexpression of the Msx2 gene in a mouse model resulted also in optic nerve aplasia and microphthalmia. 24666290 2015